Publicaciones
Consejo Genético / Secuenciación genómica de última generación
- Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations. American Journal of Medical Genetics A. 2011
- Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. American Journal of Human Genetics. 2011
- Hereditary hearing loss: genetic counselling. Acta Otorrinolaringológica Española. 2011
- Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. European Journal of Human Genetics. 2011
- Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma. Head Neck. 2011
- Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomasand melanomas. Head Neck. 2012
Destacados
